Abstract
A family with an obstetric history consistent with placental sulfatase deficiency has X-linked ichthyosis. Steroid sulfatase deficiency was confirmed in placenta, leukocytes, and cultured skin fibroblasts of affected males; arylsulfatase A diminution was also observed in these tissues of both affected males and 2 generations of related females. No symptoms of metachromatic leukodystrophy are present in any family members. In this family, placental sulfatase deficiency, and arylsulfatase A pseudo-deficiency are nonallelic.
| Original language | English |
|---|---|
| Pages (from-to) | 434-443 |
| Number of pages | 10 |
| Journal | American journal of human genetics |
| Volume | 34 |
| Issue number | 3 |
| State | Published - 1982 |